Abdulrazzak, Hassan; (1999) The characterization of the p-type dystrophin transcript and promoter. Doctoral thesis (Ph.D), UCL (University College London).

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Abstract

Duchenne and Becker muscular dystrophies (DMD/BMD) are caused by mutations in the dystrophin gene. DMD is also associated with a variable degree of mental impairment. Several dystrophin transcripts are expressed in the brain including a novel transcript (P-type dystrophin) expressed specifically in Purkinje cells; its expression is controlled by an alternative promoter. This study shows that the P-type mRNA is also expressed in skeletal and cardiac muscle but not in smooth muscle. Its first exon encodes a specific, short amino terminus that is highly conserved in mammals and to a lesser extent in chicken. The nucleotide sequence of the P-type first exon and putative promoter region is also conserved. In mice, the 5'-end of the P-type transcript was found to be structurally diverse arising from alternative splicing events at the 5'-UTR. This may occur separately or in combination with insertion of a part of intron I resulting in premature termination of translation. There are multiple transcription initiation sites, the predominant one being conserved in human and mouse. Moreover, alternative usage of ATG codons may result in alternative N-termini in rodents or short upstream open reading frames in other species. Several regulatory elements are conserved in different species. The TATA box found in human sequence is not conserved and is outside the region that directed CAT reporter gene expression in differentiated myotubes in culture.

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